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α1-Antitrypsin deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
This disorder is a major cause of the neonatal hepatitis syndrome. It has been found in 14–29 percent of such infants [24]. Bleeding may occur as a result of vitamine K deficiency. Occasionally in such an infant, there are acholic stools and the picture may simulate extrahepatic biliary atresia [25]. The diagnosis of α1-AT deficiency should obviate the usually demanding work-up for this disorder. In α1-AT deficiency, the jaundice usually clears spontaneously by 7 months-of-age [26].
Section 7
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
The differentiation of EHBA (extrahepatic biliary atresia) from neonatal hepatitis in a child with cholestasis is often difficult. A combination of clinical, radiological and biochemical tests will help. Hepatomegaly, persistently acholic stools, associated polysplenia or other intra-abdominal vascular anomalies, normal uptake on a HIDA scan with no excretion, liver biopsy suggestive of periportal fibrosis and oedema with bile ductular proliferation and bile plugs are all supportive of EHBA. Neonatal hepatitis is familial in 20% cases and the liver biopsy shows destruction of the architecture of the liver and marked inflammatory cell infiltrate.
Biliary Atresia
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
Medical: – Neonatal hepatitis.– Giant cell hepatitis.– Alpha-1 antitrypsin deficiency.– Alagille syndrome (due to bile duct paucity).– Progressive familial intrahepatic cholestasis (Type 1, 2, and 3).
Safety of antithyroid drugs in pregnancy: update and therapy implications
Published in Expert Opinion on Drug Safety, 2020
Thanuya Francis, Niroshan Francis, John H. Lazarus, Onyebuchi E. Okosieme
In pregnancy, PTU related liver failure is estimated to occur in approximately 4 out of 4000 (0.1%) treated pregnant women per year [62]. Although severe liver disease is rare in pregnancy it can have serious consequences. Pregnancy may mask the symptoms of liver dysfunction and create diagnostic confusion in the interpretation of liver enzyme abnormalities. For example, features of lethargy, abdominal pain or mild liver enzyme abnormalities may be attributed to pregnancy. Table 3 illustrates the variable severity and outcomes of cases of PTU related hepatotoxicity seen in pregnancy [30,68–74]. Most cases were diagnosed in the second trimester with PTU exposure durations ranging from 7–20 weeks (Table 3). Out of eight cases identified in the literature between 2000–2019, there was one maternal death [69], two cases that required liver transplants [70,74], two pregnancy losses [69,72], and delivery of a child with developmental deficits [70] and low birth weight [73]. Hyperthyroidism was managed with thyroidectomies in four cases [30,70,73,74] while the other cases received CMZ [68,71] or no treatment [69,72]. Of the cases that recovered, recovery typically occurred within 4–6 weeks of stopping the offending medications ([30,71,72]. Only four out of eight cases had apparently healthy babies [30,68,71,74] illustrating the heavy toll of hepatotoxicity in pregnancy. In another report the neonate of a mother treated with PTU in pregnancy developed neonatal hepatitis presumably due to transplacental transfer of PTU from the maternal circulation [75].
Expression of CD56 is Not Limited to Biliary Atresia and Correlates with the Degree of Fibrosis in Pediatric Cholestatic Diseases
Published in Fetal and Pediatric Pathology, 2022
Pavithra Ayyanar, Santosh Kumar Mahalik, Snehendu Haldar, Suvendu Purkait, Susama Patra, Suvradeep Mitra
We have included the liver biopsies of 14 cases of BA (group 1), 11 cases of pediatric CC (group 2), and 10 cases of pediatric cholestasis other than BA (group 3) (three cases of congenital hepatic fibrosis, two cases of neonatal hepatitis, two cases of progressive familial intrahepatic cholestasis (PFIC; one case of PFIC2 and other case of PFIC3), and three cases of paucity of interlobular bile ducts (one syndromic and two non-syndromic cases related to TORCH infection)) along with the liver samples from five age-matched infant autopsies for non-liver related deaths (group 0). The clinical, biochemical, and radiological parameters of each case were carefully assessed.